Canonical Allele Identifier: CA089741
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 412482
dbSNP Id: rs146800605
gnomAD v2: 1-17349132-T-C
gnomAD v3: 1-17022637-T-C
gnomAD v4: 1-17022637-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022637T>C , CM000663.2:g.17022637T>C GRCh38
NC_000001.10:g.17349132T>C , CM000663.1:g.17349132T>C GRCh37
NC_000001.9:g.17221719T>C NCBI36
NG_012340.1:g.36534A>G , LRG_316:g.36534A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.565A>G ENSP00000481376.2:p.Ile189Val
ENST00000491274.6:c.694A>G ENSP00000480482.2:p.Ile232Val
ENST00000375499.8:c.736A>G MANE Select ENSP00000364649.3:p.Ile246Val
ENST00000375499.7:c.736A>G ENSP00000364649.3:p.Ile246Val
ENST00000475049.5:n.161A>G
ENST00000485092.5:n.400A>G
ENST00000485515.5:n.670A>G
NM_003000.2:c.736A>G , LRG_316t1:c.736A>G NP_002991.2:p.Ile246Val
NM_003000.3:c.736A>G MANE Select NP_002991.2:p.Ile246Val